ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4642C>T (p.Pro1548Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289330 SCV002580079 uncertain significance Pallister-Hall syndrome 2022-06-20 criteria provided, single submitter clinical testing

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